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Summary
HYPER BETA-ALANINEMIA
HYPERALANINEMIA
237400
OMIM = Online Medalian Inheritance of Men
309147
  • Vitamin B6 (pyridoxine)
very rare
autosomal recessive
symptoms
Amino acid, spinal fluid
Amino acids, plasma
Amino acids, urine
defect of deep tendon reflexes
early death
failure to thrive
hypotonia
lethargy, drowsiness, malaise or sleep disorder
onset, neonatal
respiratory distress
seizures
laboratory finding
beta-Alanine300.00500.0025.00288.00+Ôé¼mol/lurinenewborn
beta-Alanine15.00200.000.0010.00-Ámol/lplasma
Taurine0.000.008.00226.00increasedurinenewborn
gamma-Aminobutyric acid15.0045.000.000.00+Ôé¼mol/lurinenewborn
beta-Alanine0.0045.000.000.06-Ámol/lcerebrospinal fluid
3-Aminoisobutyric acid0.000.00 increasedurineno data
Literature
Vidnes JOyasaeter SGlucagon deficiency causing severe neonatal hypoglycemia in a patient with normal insulin secretionPediat Res110949-9491977
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Vassault ABonnefort JP, Specola N, Saudubray LMLactate, Pyruvate, and Ketone BodiesTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York00285-3081991
Yaghmai Ret al.Progressive cerebral edema associated with high methionine levels and betaine therapy in a patient with cystathionine beta-synthase (CBS) deficiencyAm J Med Genet108157-632002